2 Separate Studies Show How Rare Mutation on TREM2 Gene Contributes to Alzheimer’s

2 Separate Studies Show How Rare Mutation on TREM2 Gene Contributes to Alzheimer’s
Researchers of two independent studies have discovered how a specific mutation on the TREM2 gene contributes to the development and progression of Alzheimer’s disease, findings that shed light on the role of TREM2 in the brain, and can lead to new ways of treating this neurological disease. Their work was reported in studies titled “TREM2 shedding by cleavage at the H157-S158 bond is accelerated for the Alzheimer’s disease-associated H157Y variant” and “An Alzheimer associated TREM2 variant occurs at the ADAM cleavage site and affects shedding and phagocytic function,” both published in the journal EMBO Molecular Medicine. Previous research associated the TREM2 gene with several neurodegenerative diseases, including Alzheimer's, frontotemporal lobar degeneration, Parkinson's, and Nasu-Hakola disease. Specialized immune cells called microglia are responsible for protecting the brain from damage caused by  toxic components like amyloid-β aggregates or dying cells. But aging or the onset of a neurological diseases cause microglia to lose their protective abilities, so that they fail to clear the brain of damaging materials. The TREM2 gene encodes for a protein — also known as TREM2, for triggering receptor expressed on
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